@prefix this: <
http://rdf.disgenet.org/nanopublications.trig#NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk
> .
@prefix rdfs: <
http://www.w3.org/2000/01/rdf-schema#
> .
@prefix xsd: <
http://www.w3.org/2001/XMLSchema#
> .
@prefix sio: <
http://semanticscience.org/resource/
> .
@prefix ncit: <
http://ncicb.nci.nih.gov/xml/owl/EVS/Thesaurus.owl#
> .
@prefix lld: <
http://linkedlifedata.com/resource/umls/id/
> .
@prefix miriam-gene: <
http://identifiers.org/ncbigene/
> .
@prefix miriam-pubmed: <
http://identifiers.org/pubmed/
> .
@prefix eco: <
http://purl.obolibrary.org/obo/eco.owl#
> .
@prefix wi: <
http://purl.org/ontology/wi/core#
> .
@prefix prov: <
http://www.w3.org/ns/prov#
> .
@prefix pav: <
http://purl.org/pav/2.0/
> .
@prefix prv: <
http://purl.org/net/provenance/ns#
> .
@prefix dcterms: <
http://purl.org/dc/terms/
> .
@prefix np: <
http://www.nanopub.org/nschema#
> .
@prefix dgn-np: <
http://rdf.disgenet.org/nanopublications.trig#
> .
@prefix dgn-gda: <
http://rdf.disgenet.org/gene-disease-association.ttl#
> .
@prefix dgn-void: <
http://rdf.disgenet.org/v2.1.0/void.ttl#
> .
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_head
{
this:
np:hasAssertion
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_assertion
;
np:hasProvenance
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_provenance
;
np:hasPublicationInfo
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_publicationInfo
;
a
np:Nanopublication
.
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_assertion
a
np:Assertion
.
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_provenance
a
np:Provenance
.
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_publicationInfo
a
np:PublicationInfo
.
}
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_assertion
{
miriam-gene:4763
a
ncit:C16612
.
lld:C0206729
a
ncit:C7057
.
dgn-gda:DGNf6df3ad7987dafe284c30dd5d1d79493
sio:SIO_000628
miriam-gene:4763
,
lld:C0206729
;
a
sio:SIO_001121
.
}
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_provenance
{
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_assertion
dcterms:description
"[Defects in the NF1 gene have been implicated in the inherited disorder neurofibromatosis type 1, which is characterized by several developmental abnormalities including an increased frequency of benign and malignant tumours of neural crest origin (neurofibromas and neurofibrosarcomas respectively).]. Sentence from MEDLINE/PubMed, a database of the U.S. National Library of Medicine."@en ;
wi:evidence
dgn-void:source_evidence_literature
;
sio:SIO_000772
miriam-pubmed:1570015
;
prov:wasDerivedFrom
dgn-void:befree-20140225
;
prov:wasGeneratedBy
eco:ECO_0000203
.
dgn-void:befree-20140225
pav:importedOn
"2014-02-25"^^
xsd:date
.
dgn-void:source_evidence_literature
a
eco:ECO_0000212
;
rdfs:comment
"Gene-disease associations inferred from text-mining the literature."@en ;
rdfs:label
"DisGeNET evidence - LITERATURE"@en .
}
dgn-np:NP355595.RAb-RSVJxBC27VdeEESUrh5ABRfLrx0VJR8jXD2IC0Xsk130_publicationInfo
{
this:
dcterms:created
"2014-10-02T12:35:28+02:00"^^
xsd:dateTime
;
dcterms:rights
<
http://opendatacommons.org/licenses/odbl/1.0/
> ;
dcterms:rightsHolder
dgn-void:IBIGroup
;
dcterms:subject
sio:SIO_000983
;
prv:usedData
dgn-void:disgenetrdf
;
pav:authoredBy
<
http://orcid.org/0000-0001-5999-6269
> , <
http://orcid.org/0000-0002-7534-7661
> , <
http://orcid.org/0000-0002-9383-528X
> , <
http://orcid.org/0000-0003-0169-8159
> , <
http://orcid.org/0000-0003-1244-7654
> ;
pav:createdBy
<
http://orcid.org/0000-0003-0169-8159
> ;
pav:version
"v2.1.0.0" .
dgn-void:disgenetrdf
pav:version
"v2.1.0" .
}